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GCID:
GC11M119096
GIFtS:
62

DPAGT1 Gene(Protein Coding)

Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase)

Aliases for DPAGT1 Gene

Aliases for DPAGT1 Gene

  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) 2 3
  • DPAGT2 3 4 6
  • N-Acetylglucosamine-1-Phosphate Transferase 3 4
  • GlcNAc-1-P Transferase 3 4
  • EC 2.7.8.15 4 63
  • CMSTA2 3 6
  • CDG1J 3 6
  • DGPT 3 6
  • G1PT 3 4
  • GPT 3 4
  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Tra 3
  • UDP-N-Acetylglucosamine--Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 3
  • UDP-GlcNAc:Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 3
  • Dolichyl-Phosphate Alpha-N-Acetylglucosaminyltransferase 3
  • EC 2.7.8 63
  • D11S366 3
  • CDG-Ij 3
  • DPAGT 3
  • UGAT 3
  • ALG7 3
  • UAGT 3

External Ids for DPAGT1 Gene

Previous HGNC Symbols for DPAGT1 Gene

  • DPAGT2
  • DPAGT

Previous GeneCards Identifiers for DPAGT1 Gene

  • GC11M135549
  • GC11M120479
  • GC11M119001
  • GC11M118504
  • GC11M118472
  • GC11M114906
  • GC11M118973

Summaries for DPAGT1 Gene

Entrez Gene Summary for DPAGT1 Gene

  • The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

GeneCards Summary for DPAGT1 Gene

DPAGT1 (Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase)) is a Protein Coding gene. Diseases associated with DPAGT1 include congenital disorder of glycosylation, type ij and myasthenic syndrome, congenital, with tubular aggregates 2. Among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include transferase activity, transferring glycosyl groups and phospho-N-acetylmuramoyl-pentapeptide-transferase activity.

UniProtKB/Swiss-Prot for DPAGT1 Gene

  • Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides

Gene Wiki entry for DPAGT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPAGT1 Gene

Genomics for DPAGT1 Gene

Regulatory Elements for DPAGT1 Gene

Genomic Location for DPAGT1 Gene

Start:
119,096,503 bp from pter
End:
119,108,331 bp from pter
Size:
11,829 bases
Orientation:
Minus strand

Genomic View for DPAGT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DPAGT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPAGT1 Gene

Proteins for DPAGT1 Gene

  • Protein details for DPAGT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3H5-GPT_HUMAN
    Recommended name:
    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
    Protein Accession:
    Q9H3H5
    Secondary Accessions:
    • O15216
    • Q86WV9
    • Q9BWE6

    Protein attributes for DPAGT1 Gene

    Size:
    408 amino acids
    Molecular mass:
    46090 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DPAGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPAGT1 Gene

Proteomics data for DPAGT1 Gene at MOPED

Post-translational modifications for DPAGT1 Gene

Other Protein References for DPAGT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DPAGT1 Gene

Protein Domains for DPAGT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPAGT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3H5

UniProtKB/Swiss-Prot:

GPT_HUMAN :
  • Q9H3H5
Family:
  • Belongs to the glycosyltransferase 4 family.
genes like me logo Genes that share domains with DPAGT1: view

No data available for Gene Families for DPAGT1 Gene

Function for DPAGT1 Gene

Molecular function for DPAGT1 Gene

GENATLAS Biochemistry: dolichyl-phosphate alpha-N-acetylglucosamyltransferase (see D11S366)
UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol
UniProtKB/Swiss-Prot Function: Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides

Enzyme Numbers (IUBMB) for DPAGT1 Gene

Gene Ontology (GO) - Molecular Function for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003975 UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IMP 12872255
GO:0008963 phospho-N-acetylmuramoyl-pentapeptide-transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with DPAGT1: view

Phenotypes for DPAGT1 Gene

MGI mutant phenotypes for DPAGT1:
inferred from 3 alleles
GenomeRNAi human phenotypes for DPAGT1:
genes like me logo Genes that share phenotypes with DPAGT1: view

Animal Models for DPAGT1 Gene

MGI Knock Outs for DPAGT1:

Animal Model Products

CRISPR Products

miRNA for DPAGT1 Gene

miRTarBase miRNAs that target DPAGT1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DPAGT1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for DPAGT1 Gene

Localization for DPAGT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPAGT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPAGT1 Gene COMPARTMENTS Subcellular localization image for DPAGT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 8179616
GO:0016021 integral component of membrane ISS --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 12872255
GO:0043231 intracellular membrane-bounded organelle IDA 12872255
genes like me logo Genes that share ontologies with DPAGT1: view

Pathways for DPAGT1 Gene

genes like me logo Genes that share pathways with DPAGT1: view

UniProtKB/Swiss-Prot Q9H3H5-GPT_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000271 polysaccharide biosynthetic process IBA --
GO:0006047 UDP-N-acetylglucosamine metabolic process IBA --
GO:0006487 protein N-linked glycosylation IMP 19549906
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with DPAGT1: view

Compounds for DPAGT1 Gene

(5) HMDB Compounds for DPAGT1 Gene

Compound Synonyms Cas Number PubMed IDs
Dolichol phosphate
  • dolichol-phosphate
34457-14-2
Dolichol-20
  • Dolichol (C100)
2067-66-5
N-Acetyl-D-glucosaminyldiphosphodolichol
  • N-Acetyl-D-glucosaminyl-diphosphodolichol
Not Available
Uridine 5'-monophosphate
  • 5'-UMP
58-97-9
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
528-04-1

(10) Novoseek inferred chemical compound relationships for DPAGT1 Gene

Compound -log(P) Hits PubMed IDs
glcnac-pp-dolichol 96.2 3
dolichol 78.9 4
mycophenolic acid 59.8 2
tunicamycin 57 4
6 thioguanine 46.3 1
genes like me logo Genes that share compounds with DPAGT1: view

Transcripts for DPAGT1 Gene

Unigene Clusters for DPAGT1 Gene

Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DPAGT1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPAGT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a ·
SP1: - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: -
SP8:
SP9: - - -
SP10: - - - -
SP11:

ExUns: 11b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DPAGT1 Gene

GeneLoc Exon Structure for
DPAGT1
ECgene alternative splicing isoforms for
DPAGT1

Expression for DPAGT1 Gene

mRNA expression in normal human tissues for DPAGT1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DPAGT1 Gene

SOURCE GeneReport for Unigene cluster for DPAGT1 Gene Hs.524081

genes like me logo Genes that share expressions with DPAGT1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DPAGT1 Gene

Orthologs for DPAGT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPAGT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPAGT1 35
  • 99.84 (n)
  • 99.75 (a)
DPAGT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DPAGT1 35
  • 92.24 (n)
  • 93.63 (a)
DPAGT1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPAGT1 35
  • 92.57 (n)
  • 95.59 (a)
DPAGT1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpagt1 35
  • 89.95 (n)
  • 94.12 (a)
Dpagt1 16
Dpagt1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPAGT1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPAGT1 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpagt1 35
  • 90.44 (n)
  • 93.63 (a)
chicken
(Gallus gallus)
Aves DPAGT1 35
  • 75.69 (n)
  • 83.46 (a)
DPAGT1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPAGT1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487779 35
  • 73.73 (n)
  • 83.77 (a)
zebrafish
(Danio rerio)
Actinopterygii dpagt1 35
  • 69.55 (n)
  • 77.48 (a)
dpagt1 36
  • 76 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008131 35
  • 58.83 (n)
  • 56.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5287 35
  • 58.82 (n)
  • 57.03 (a)
CG5287 36
  • 54 (a)
OneToOne
CG5287 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y60A3A.14 35
  • 54.23 (n)
  • 52.79 (a)
T08D2.2 36
  • 46 (a)
OneToMany
Y60A3A.14 36
  • 48 (a)
OneToMany
Y60A3A.14 37
  • 50 (a)
T08D2.2 37
  • 51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL037W 35
  • 53.03 (n)
  • 45.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG7 35
  • 50.36 (n)
  • 44.59 (a)
ALG7 36
  • 38 (a)
OneToOne
ALG7 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06776g 35
  • 50.09 (n)
  • 44.17 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57220 35
  • 52.96 (n)
  • 51.71 (a)
rice
(Oryza sativa)
Liliopsida Os07g0661100 35
  • 54.21 (n)
  • 48.82 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10762 35
  • 54.03 (n)
  • 46.43 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpt2 35
  • 49 (n)
  • 47.01 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6031 36
  • 52 (a)
OneToOne
Species with no ortholog for DPAGT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPAGT1 Gene

ENSEMBL:
Gene Tree for DPAGT1 (if available)
TreeFam:
Gene Tree for DPAGT1 (if available)

Paralogs for DPAGT1 Gene

No data available for Paralogs for DPAGT1 Gene

Variants for DPAGT1 Gene

Sequence variations from dbSNP and Humsavar for DPAGT1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs565669 -- 119,103,411(-) CCTCA(C/T)ATCTG upstream-variant-2KB
rs599385 -- 119,103,775(+) ACAAA(A/G)ACCCA upstream-variant-2KB
rs603826 -- 119,100,168(-) CAATA(G/T)GCATA intron-variant
rs604714 -- 119,099,986(-) ACAGG(G/T)TCATT intron-variant
rs649870 -- 119,100,541(+) AGACA(A/G)AAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DPAGT1 Gene

Variant ID Type Subtype PubMed ID
nsv898416 CNV Loss 21882294

Relevant External Links for DPAGT1 Gene

HapMap Linkage Disequilibrium report
DPAGT1
Human Gene Mutation Database (HGMD)
DPAGT1
Locus Specific Mutation Databases (LSDB)
DPAGT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPAGT1 Gene

Disorders for DPAGT1 Gene

(2) OMIM Diseases for DPAGT1 Gene (191350)

UniProtKB/Swiss-Prot

GPT_HUMAN
  • Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:12872255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]: A congenital myasthenic syndrome characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography. {ECO:0000269 PubMed:22742743}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for DPAGT1 Gene

Disease -log(P) Hits PubMed IDs
smoking habit 14.2 2
bleeding 0 2

Relevant External Links for DPAGT1

GeneTests
DPAGT1
GeneReviews
DPAGT1
Genetic Association Database (GAD)
DPAGT1
Human Genome Epidemiology (HuGE) Navigator
DPAGT1
genes like me logo Genes that share disorders with DPAGT1: view

Publications for DPAGT1 Gene

  1. Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae. (PMID: 9451016) Eckert V. … Schwarz R.T. (Glycobiology 1998) 3 4 23
  2. Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij. (PMID: 12872255) Wu X. … Freeze H.H. (Hum. Mutat. 2003) 3 4 23
  3. Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol. (PMID: 8179616) Yasugi E. … Oshima M. (Biochem. Biophys. Res. Commun. 1994) 3 23
  4. A sequence-tagged site map of human chromosome 11. (PMID: 8244387) Smith M.W. … Lin Y. (Genomics 1993) 2 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DPAGT1 Gene

Sources for DPAGT1 Gene

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